Clonal genetic evolution at relapse of favorable-risk acute myeloid leukemia with NPM1 mutation is associated with phenotypic changes and worse outcomes.

Abstract

Acute myeloid leukemia (AML) is a dynamic disease caused by accumulating, somatically acquired driver mutations generating branching competing clones.1 In favorable-risk AML, high resolution genomic profiling by single nucleotide polymorphism array analysis of paired diagnostic-relapse NPM1mut and CBF AML samples revealed increased genomic complexity at relapse but most patients retained founding mutations.2,3 Furthermore, it has been extensively reported that phe notypic changes are commonly found at relapse in AML patients. It seems plausible that clonal evolution could be reflected in the phenotypic shifts of AML blast cells found at relapse, although the correlation with genetic clonal evolution has not been established